Submissions for variant NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)

gnomAD frequency: 0.00001  dbSNP: rs552179138

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001356786	SCV001569218	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235559	SCV003934015	uncertain significance	not specified	2023-05-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356786	SCV001552048	likely benign	not provided		no assertion criteria provided	clinical testing	The NDUFS7 p.G16D variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs552179138) and in control databases in 79 of 247548 chromosomes (2 homozygous) at a frequency of 0.0003191, and was observed at the highest frequency in the South Asian population in 78 of 30608 chromosomes (2 homozygous) (freq: 0.002548) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.G16 residue is not conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003928860	SCV004746947	likely benign	NDUFS7-related disorder	2022-04-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).